Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147053 | SCV000194398 | likely pathogenic | Lissencephaly due to LIS1 mutation | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV000147053 | SCV000786719 | likely pathogenic | Lissencephaly due to LIS1 mutation | criteria provided, single submitter | research | The heterozygous c.671+5G>A variant was identified by our study in one individual with Lissencephaly. Trio analysis showed this variant to be de novo. This variant is located in the extended slice site According to alamut it eliminates a splice donor site 5 nucleotides from the canonical splice site, and weakens the splice donor site of intron 7 by 2/5 splice predictors. ESEfinder predicts the splice donor site to be unaffected but the donor site 5 nucleotides away is eliminated. This variant was absent from large population studies but it was entered in ClinVar by UChicago as likely pathogenic. They reported that they identified this variant in one individual with Lissencephaly. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. |